uterine cancer - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	uterine cancer	go back to main search page
Accession:	DOID:363	browse the term
Definition:	A female reproductive organ cancer that is located_in the uterus. (DO)
Synonyms:	exact_synonym:	CA - cancer of uterus; cancer of the uterus; cancer of uterus; malignant neoplasm of body of uterus; malignant neoplasm of uterus; malignant uterine tumor; uterine cancers; uterus cancer; uterus cancers
	xref:	ICD10CM:C55; ICD9CM:179; NCI:C3435; NCI:C3552
For additional species annotation, visit the Alliance of Genome Resources.

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Rat (328) Mouse (322) Human (2551) Chinchilla (288) Bonobo (305) Dog (306) Squirrel (291) Pig (303) Green Monkey (299) Naked Mole-rat (286) All
Genes (306)

uterine cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aurora kinase A

susceptibility

DNA:SNP:cds:p.F31I

NCBI chr24:41,585,483...41,604,875
Ensembl chr24:41,585,518...41,604,791

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:12068308 PMID:12198537 PMID:12960123 PMID:14679157 PMID:15035987 More...

NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

G

catenin beta 1

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:9065402 PMID:9065403 PMID:9294210 PMID:9500465 PMID:9927029 More...

NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927

G

estrogen receptor binding site associated antigen 9

protein:increased expression:serum

NCBI chr13:10,081,700...10,099,737
Ensembl chr13:10,081,695...10,099,501

G

erb-b2 receptor tyrosine kinase 2

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:16397024 PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 More...

NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294

G

erb-b2 receptor tyrosine kinase 3

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:25741868 PMID:26619011

NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:7719344 PMID:8651276 PMID:9002682 PMID:9462761 PMID:9719378 More...

NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717

G

kallikrein related peptidase 10

mRNA, protein:increased expression:endometrium, serum

NCBI chr 1:105,860,406...105,864,238
Ensembl chr 1:105,860,946...105,864,238

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More...

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

L1 cell adhesion molecule

severity

protein:increased expression:uterus, serum (human)

NCBI chr X:121,708,695...121,722,819
Ensembl chr X:121,708,894...121,733,365

G

LETM1 domain containing 1

mRNA:increased expression:uterine cervix

NCBI chr27:3,761,880...3,770,158
Ensembl chr27:3,761,203...3,770,103

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220

G

mitogen-activated protein kinase kinase 1

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:17366577 PMID:17551924 PMID:19915144 PMID:21107320 PMID:22197931 More...

NCBI chr30:30,683,192...30,760,479
Ensembl chr30:30,683,107...30,760,479

G

mechanistic target of rapamycin kinase

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:20190810 PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 More...

NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

NCBI chr17:11,720,857...11,724,308

G

NFE2 like bZIP transcription factor 2

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More...

NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More...

NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:25157968 PMID:25741868 PMID:26619011

NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 More...

NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917

G

protein phosphatase 2 scaffold subunit Aalpha

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:25533962 PMID:25741868 PMID:26168268 PMID:26619011 PMID:28492532 More...

NCBI chr 1:104,974,059...105,013,745
Ensembl chr 1:104,974,072...105,013,663

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More...

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

Rac family small GTPase 1

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:25056119 PMID:26619011

NCBI chr 6:11,726,259...11,758,532
Ensembl chr 6:11,655,494...11,757,216

G

Ras homolog, mTORC1 binding

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

NCBI chr16:15,439,910...15,483,489
Ensembl chr16:15,434,111...15,483,419

G

SOS Ras/Rac guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:25741868 PMID:26619011

NCBI chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063

G

speckle type BTB/POZ protein

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

NCBI chr 9:25,685,723...25,752,953
Ensembl chr 9:25,686,439...25,752,900

G

tumor protein p53

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:124622 PMID:960674 PMID:1349175 PMID:1359493 PMID:1565143 More...

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

U2 small nuclear RNA auxiliary factor 1

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011

NCBI chr31:37,263,265...37,276,710

G

exportin 1

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

NCBI chr10:61,541,647...61,588,397
Ensembl chr10:61,542,211...61,585,054

cervical adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serine peptidase inhibitor Kazal type 1

NCBI chr 2:42,112,015...42,120,738
Ensembl chr 2:42,112,016...42,120,706

G

trefoil factor 1

mRNA, protein:increased expression:uterine cervix

NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665

G

transferrin receptor

protein:increased expression:uterine cervix

NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242

G

tumor protein p53

disease_progression

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

cervical cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apurinic/apyrimidinic endodeoxyribonuclease 1

DNA:polymorphism: :p.D148E (human)

PMID:18503157 PMID:19292061

RGD:2315657 RGD:2315662

NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422

G

apoptosis inhibitor 5

disease_progression

mRNA:increased expression

NCBI chr18:26,326,387...26,355,580
Ensembl chr18:26,327,920...26,355,585

G

BCL2 like 1

protein:increased expression:uterine cervix

NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355

G

baculoviral IAP repeat containing 2

mRNA:decreased expression:uterine cervix

NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771

G

BRCA1 DNA repair associated

disease_progression

DNA:hypermethylation:promoter

NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494

G

BRCA1 interacting helicase 1

ClinVar Annotator: match by term: Cervical cancer

PMID:18483852 PMID:25741868 PMID:26467025 PMID:26790966 PMID:28492532 More...

NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788

G

basigin

disease_progression

NCBI chr20:57,942,703...57,951,089
Ensembl chr20:57,943,276...57,951,061

G

caspase 3

NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505

G

cyclin B1

mRNA, protein:increased expression:uterine cervix

NCBI chr 2:54,256,957...54,264,749

G

CD55 molecule

NCBI chr 7:6,361,037...6,396,063
Ensembl chr 7:6,360,964...6,386,226

G

cell division cycle 25A

NCBI chr20:40,823,683...40,849,113
Ensembl chr20:40,823,459...40,847,608

G

cell division cycle 25C

NCBI chr11:25,904,152...25,940,754
Ensembl chr11:25,904,144...25,935,744

G

cadherin 13

DNA:hypermethylation:promoter

NCBI chr 5:68,491,156...69,586,119
Ensembl chr 5:68,492,022...69,489,255

G

cyclin dependent kinase 1

NCBI chr 4:12,884,106...12,899,203
Ensembl chr 4:12,883,385...12,899,197

G

major histocompatibility complex, class II, DQ beta 1

susceptibility

DNA:polymorphisms::HLA-DQB1*050201, DQB1*060101, DQB1*0602(human)
associated with Papillomavirus Infections;DNA:polymorphism: :HLA-DQB1 G > A (rs6457617)(human)

PMID:16425277 PMID:25893807

RGD:36174015 RGD:36174023

NCBI chr12:2,305,307...2,307,711

G

MHC class I DLA-88

susceptibility

associated with Papillomavirus Infections;DNA:polymorphism: :HLA-B7

NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690

G

estrogen receptor binding site associated antigen 9

disease_progression

protein:increased expression:uterine cervix

NCBI chr13:10,081,700...10,099,737
Ensembl chr13:10,081,695...10,099,501

G

erb-b2 receptor tyrosine kinase 4

protein:increased expression: uterine cervix, cytoplasm

NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426

G

FA complementation group A

no_association

DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human)
DNA:SNP: :rs11649196 (human)

PMID:19012493 PMID:21543111

RGD:11344886 RGD:11344901

NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Cancer of cervix | ClinVar Annotator: match by term: Cervical cancer | ClinVar Annotator: match by term: Cervix cancer

PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More...

NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

homeobox B13

mRNA:increased expression:uterine cervix

NCBI chr 9:24,958,020...24,961,353
Ensembl chr 9:24,959,183...24,961,588

G

heat shock protein family A (Hsp70) member 8

Protein: increased expression

NCBI chr 5:11,292,219...11,296,851
Ensembl chr 5:11,292,262...11,296,797

G

interleukin 10

disease_progression

protein:increased expression:serum

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 1 beta

susceptibility

associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human)

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

lysine demethylase 3A

severity

human gene in a mouse model

NCBI chr17:38,690,962...38,744,507
Ensembl chr17:38,690,979...38,743,739

G

lysine methyltransferase 2A

human gene in a mouse model

NCBI chr 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971

G

lysine methyltransferase 2E (inactive)

human gene in a mouse model

NCBI chr18:15,240,631...15,332,850
Ensembl chr18:15,239,994...15,332,828

G

heterogeneous nuclear ribonucleoprotein C

protein:increased expression:cervical epithelium (human)

NCBI chr15:18,239,810...18,299,065

G

MET transcriptional regulator MACC1

mRNA:increased expression:cervical region (human)

NCBI chr14:34,189,983...34,271,998
Ensembl chr14:34,075,463...34,251,330

G

mitogen-activated protein kinase kinase 3

treatment

NCBI chr 5:42,732,751...42,762,420
Ensembl chr 5:42,700,836...42,761,736

G

mitogen-activated protein kinase kinase 6

NCBI chr 9:15,840,714...15,962,400
Ensembl chr 9:15,840,983...15,952,026

G

mediator of DNA damage checkpoint 1

mRNA, protein:increased expression:uterine cervix (human)

NCBI chr12:496,353...509,812
Ensembl chr12:496,878...507,442

G

mediator complex subunit 4

severity

mRNA:decreased expression:uterine cervix (human)

NCBI chr22:3,396,276...3,411,037
Ensembl chr22:3,396,267...3,410,608

G

microRNA mir-152

miRNA:decreased expression:uterine cervix

NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225

G

microRNA mir-21

severity

NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624

G

microRNA mir-432

mRNA:decreased expression:cervical region (human)

NCBI chr 8:69,106,415...69,106,501
Ensembl chr 8:69,106,415...69,106,501

G

matrix metallopeptidase 1

disease_progression

DNA:insertion:promoter:g.-1607insG (human)

NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648

G

matrix metallopeptidase 13

mRNA:increased expression:uterine cervix

NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121

G

methylenetetrahydrofolate reductase

susceptibility

DNA:missense mutation:cds:g.1298A>C (human)

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

NADH:ubiquinone oxidoreductase subunit S6

disease_progression

DNA, mRNA:amplification, increased expression:uterine cervix

NCBI chr34:10,989,857...10,999,232
Ensembl chr34:10,989,828...11,001,053

G

NRAS proto-oncogene, GTPase

mRNA:increased expression:uterine cervix

NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788

G

phosphoglucomutase 3

NCBI chr12:43,582,472...43,611,583
Ensembl chr12:43,584,940...43,611,777

G

parkin RBR E3 ubiquitin protein ligase

disease_progression

protein:decreased expression:uterine cervix (human)

NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764

G

protein tyrosine kinase 2

disease_progression

NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294

G

protein tyrosine phosphatase non-receptor type 11

protein:increased expression:foreskin

NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481

G

protein tyrosine phosphatase non-receptor type 6

protein:increased expression:foreskin

NCBI chr27:38,084,976...38,101,552
Ensembl chr27:38,084,980...38,101,937

G

Ras association domain family member 1

associated with Papillomavirus Infections;DNA:hypermethylation:promoter

NCBI chr20:39,014,639...39,023,393
Ensembl chr20:39,014,666...39,022,585

G

splicing factor 3b subunit 4

severity

human cells in mouse model
mRNA, protein:increased expression:cervix (human)

NCBI chr17:59,208,989...59,214,643
Ensembl chr17:59,208,990...59,213,991

G

SMAD family member 2

DNA, mRNA:insertion, deletion, decreased expression:uterine cervix

NCBI chr 7:43,696,883...43,778,063
Ensembl chr 7:43,700,445...43,769,983

G

SMAD family member 4

mRNA:decreased expression:uterine cervix

NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405

G

SOS Ras/Rac guanine nucleotide exchange factor 1

mRNA:increased expression:cervix epithelium (human)

NCBI chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063

G

sperm associated antigen 5

severity

mRNA, protein:increased expression:cervix (human)

NCBI chr 9:42,783,224...42,804,568
Ensembl chr 9:42,783,235...42,804,456

G

transporter 1, ATP binding cassette subfamily B member

susceptibility

DNA:SNPs: :

PMID:12648582 PMID:18248301

RGD:6482260 RGD:6482272

NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303

G

transporter 2, ATP binding cassette subfamily B member

susceptibility

DNA:SNPs: :

PMID:12648582 PMID:18248301

RGD:6482260 RGD:6482272

NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303

G

TIMP metallopeptidase inhibitor 4

disease_progression

mRNA:increased expression:uterine cervix

NCBI chr20:6,399,522...6,405,089
Ensembl chr20:6,399,522...6,405,089

G

tumor necrosis factor

susceptibility

DNA:polymorphism:promoter:-308G>A (human)

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

tumor protein p53

ClinVar Annotator: match by term: Cancer of cervix

PMID:1349102 PMID:1849234 PMID:9407971 PMID:12826609 PMID:15982667 More...

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

tumor protein p73

susceptibility

DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human)

NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839

G

X-ray repair cross complementing 1

DNA:polymorphism: :p.R194W

NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816

G

zinc finger homeobox 3

mRNA:increased expression:uterine cervix

NCBI chr 5:78,450,963...78,635,615
Ensembl chr 5:78,455,005...78,610,033

cervical mucinous adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serine/threonine kinase 11

disease_progression

DNA:mutations

NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118

cervical squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase RNA specific

disease_progression

protein:increased expression:cervix squamous epithelium (human)

NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999

G

BCL2 associated X, apoptosis regulator

protein:increased expression:uterine cervix

NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464

G

baculoviral IAP repeat containing 2

disease_progression

DNA, protein:amplification, increased expression:uterine cervix, nucleus

NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771

G

BRCA1 interacting helicase 1

severity

mRNA, protein:increased expression:uterine cervix, nucleus (human)

NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788

G

C-C motif chemokine ligand 22

severity

NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625

G

C-C motif chemokine receptor 4

severity

NCBI chr23:3,844,072...3,847,770
Ensembl chr23:3,844,173...3,845,255

G

CD82 molecule

protein:decreased expression:uterine cervix

NCBI chr18:44,658,414...44,707,897
Ensembl chr18:44,659,180...44,706,768

G

colony stimulating factor 1 receptor

protein:increased expression:uterine cervix

NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510

G

fibroblast growth factor 7

cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells

NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521

G

fibroblast growth factor receptor 3

no_association

DNA:missense mutation:cds: p.S249G (human)

NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

Fos proto-oncogene, AP-1 transcription factor subunit

disease_progression

protein:increased expression:uterine cervix

NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467

G

FOS like 1, AP-1 transcription factor subunit

protein:decreased expression:uterine cervix

NCBI chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748

G

forkhead box P3

severity

NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758

G

microRNA mir-21

RNA:increased expression:cervical cell

NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624

G

microRNA mir-31

RNA:increased expression:blood serum (human)

NCBI chr11:40,904,438...40,904,496
Ensembl chr11:40,904,437...40,904,503

G

podoplanin

disease_progression

NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375

G

SMAD family member 3

severity

NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337

G

TIMP metallopeptidase inhibitor 2

protein:decreased expression:uterine cervix

NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989

G

transmembrane BAX inhibitor motif containing 6

disease_progression

mRNA:increased expression:uterine cervix

NCBI chr27:4,921,606...4,944,830
Ensembl chr27:4,921,606...4,944,783

G

TNF receptor superfamily member 4

severity

NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761

G

TNF superfamily member 4

severity

NCBI chr 7:25,883,297...25,909,608
Ensembl chr 7:25,883,251...25,906,892

G

tumor protein p53

disease_progression

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

cervix carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apurinic/apyrimidinic endodeoxyribonuclease 1

DNA:SNPs (human)

NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422

G

BAG cochaperone 1

protein:increased expression:uterine cervix

NCBI chr11:50,348,833...50,363,532
Ensembl chr11:50,350,999...50,363,581

G

BCL2 antagonist/killer 1

DNA:missense mutations:exon:multiple (human)

NCBI chr12:2,950,359...2,957,604
Ensembl chr12:2,948,364...2,957,018

G

cyclin D3

NCBI chr12:10,593,786...10,688,304
Ensembl chr12:10,594,712...10,600,891

G

CD9 molecule

disease_progression

NCBI chr27:38,742,539...38,754,984
Ensembl chr27:38,742,963...38,774,576

G

EGF containing fibulin extracellular matrix protein 2

exacerbates

mRNA, protein:increased expression:cervix epithelium (human)

NCBI chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107

G

endoplasmic reticulum aminopeptidase 1

DNA:SNPs (human)

NCBI chr 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634

G

fibroblast growth factor receptor 3

DNA:missense mutations:CDS:somatic mutations found in 3/12 (25%) of cervix carcinomas, all mutations are equivalent to activating germline mutations which cause thanatophoric dysplasia
DNA:missense mutation:CDS:amino acid S249C, only found in 1/51 primary tumors and no cell lines tested implying that mutation frequency is much lower than previously reported

PMID:10471491 PMID:11114733

RGD:2289864 RGD:2289865

NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

O-6-methylguanine-DNA methyltransferase

DNA:polymorphisms:cds:p.I143V, p.K178R (human)

NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380

G

prostaglandin-endoperoxide synthase 1

disease_progression

NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819

G

protein tyrosine kinase 2

protein:increased tyrosine phosphorylation:cervix

NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294

G

secreted protein acidic and cysteine rich

DNA:hypermethylation

NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711

G

transporter 2, ATP binding cassette subfamily B member

susceptibility

DNA:SNP: :(rs4148876)(human)

NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303

G

thymidine kinase 1

protein:increased expression:serum (human)

NCBI chr 9:2,959,450...2,970,908
Ensembl chr 9:2,959,488...2,971,064

G

tumor susceptibility 101

mRNA:alternative form:uterine cervix
mRNA:alternative forms:uterine cervix:multiple

PMID:10505033 PMID:10600297

RGD:2291851 RGD:2291852

NCBI chr21:40,910,870...40,952,922
Ensembl chr21:40,910,874...40,952,808

cervix uteri carcinoma in situ

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase domain 9

protein:increased expression:uterine cervix

NCBI chr16:26,413,345...26,551,293
Ensembl chr16:26,414,583...26,551,122

G

BCL2 apoptosis regulator

disease_progression

protein:increased expression:uterine cervix

NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658

G

BRCA1 DNA repair associated

DNA:deletions:exon

NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494

G

cell adhesion molecule 1

severity

NCBI chr 5:17,865,317...18,190,855
Ensembl chr 5:17,864,453...18,194,694

G

cyclin D1

protein:increased expression:uterine cervix

NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005

G

cyclin E1

protein:increased expression:uterine cervix

NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649

G

cyclin G1

protein:increased expression:uterine cervix

NCBI chr 4:47,800,697...47,808,259
Ensembl chr 4:47,801,575...47,808,211

G

CD274 molecule

severity

associated with Papillomavirus Infections; protein:increased expression:dendritic cell

NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522

G

cadherin 1

DNA:hypermethylation:uterine cervix

NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878

G

cyclin dependent kinase 4

disease_progression

associated with Papillomavirus Infections;protein:increased expression:cervix epithelium

NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789

G

cyclin dependent kinase inhibitor 1A

protein:increased expression:epithelial cell:

NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281

G

cyclin dependent kinase inhibitor 1B

disease_progression

associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium

NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906

G

cyclin dependent kinase inhibitor 2A

disease_progression

protein:increased expression
DNA:hypermethylation
protein:increased expression:uterine cervix

PMID:16406113 PMID:16778587 PMID:17415114 PMID:17910346

RGD:2289675 RGD:2289676 RGD:2296054 RGD:2296058

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

cyclin dependent kinase inhibitor 2B

protein:increased expression:uterine cervix

NCBI chr11:41,259,627...41,264,832

G

colony stimulating factor 1 receptor

disease_progression

protein:increased expression:uterine cervix

NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510

G

catenin alpha 1

disease_progression

protein:decreased expression:uterine cervix

NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091

G

discs large MAGUK scaffold protein 1

protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis

NCBI chr33:30,016,323...30,253,180
Ensembl chr33:30,016,600...30,253,547

G

Fas ligand

associated with Papillomavirus Infections

NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224

G

histone deacetylase 1

protein:increased expression:uterine cervix

NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186

G

histone deacetylase 2

protein:increased expression:uterine cervix

NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578

G

histone deacetylase 6

protein:increased expression:uterine cervix

NCBI chr X:42,004,268...42,024,726
Ensembl chr X:42,004,591...42,024,427

G

MHC class II DLA DRB1 beta chain

associated with Papillomavirus Infections

PMID:10073700 PMID:15458897 PMID:18351579

RGD:2306230 RGD:2306232 RGD:2314703

NCBI chr12:2,151,409...2,164,564

G

insulin like growth factor binding protein 3

mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)
protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)

PMID:14675666 PMID:17709267

RGD:2290004 RGD:2290021

NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392

G

interleukin 1 beta

susceptibility

associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human)

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

CD46 molecule, complement regulatory protein-like

protein:increased expression:uterine cervix

NCBI chr 7:6,602,762...6,646,561

G

matrix Gla protein

NCBI chr27:31,735,301...31,738,673
Ensembl chr27:31,734,660...31,738,673

G

microRNA mir-21

RNA:increased expression:cervical cell

NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624

G

mutL homolog 1

protein:increased expression:uterine cervix

NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116

G

matrix metallopeptidase 2

disease_progression

protein:increased expression:uterine cervix

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

mutS homolog 2

protein:increased expression:uterine cervix

NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

programmed cell death 1

severity

associated with Papillomavirus Infections; protein:increased expression:T cell

NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723

G

prohibitin 1

protein:increased expression:uterine cervix

NCBI chr 9:25,525,711...25,536,722
Ensembl chr 9:25,526,649...25,536,722

G

POU class 4 homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:31,992,657...31,997,066

G

phosphatase and tensin homolog

protein:decreased expression:uterine cervix

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

prostaglandin-endoperoxide synthase 2

disease_progression

protein:increased expression:uterine cervix, epithelial cell

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

RB transcriptional corepressor 1

associated with Adenocarcinoma

NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726

G

RELA proto-oncogene, NF-kB subunit

disease_progression

protein:altered localization, increased expression:nucleus, uterine cervix

NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875

G

S-phase kinase associated protein 2

severity

associated with Papillomavirus Infections

NCBI chr 4:72,352,966...72,386,469
Ensembl chr 4:72,352,986...72,386,307

G

serine and arginine rich splicing factor 1

disease_progression

associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human)

NCBI chr 9:32,692,517...32,696,325
Ensembl chr 9:32,694,073...32,696,285

G

signal transducer and activator of transcription 3

disease_progression

protein:increased serine phosphorylation:cervix epithelium
protein:increased expression:nucleus

PMID:16005944 PMID:17110342

RGD:2291916 RGD:2298536

NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672

G

telomerase reverse transcriptase

disease_progression

protein:increased expression:uterine cervix

NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

G

thyroid hormone receptor beta

DNA:loss of heterozygosity (human)

NCBI chr23:19,278,650...19,648,547
Ensembl chr23:19,277,493...19,660,283

G

toll like receptor 9

disease_progression

protein:increased expression:tumor:expression increases with the histopathological grade (p<0.001)

NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114

G

DNA topoisomerase II alpha

NCBI chr 9:22,207,501...22,237,497
Ensembl chr 9:22,207,638...22,237,496

G

tumor protein p63

disease_progression

NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046

G

tumor protein p73

disease_progression

mRNA:increased expression:uterine cervix

NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839

G

vascular endothelial growth factor A

protein:increased expression:uterine cervix

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

G

X-linked inhibitor of apoptosis

protein:increased expression:uterine cervix

NCBI chr X:95,300,234...95,356,103
Ensembl chr X:95,331,827...95,351,582

choriocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 8

protein:increased expression:testicular germ cell neoplasms

NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468

G

insulin like growth factor 2

disease_progression

protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR

NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982

G

insulin receptor

disease_progression

protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR

NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046

G

platelet derived growth factor subunit B

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283

G

TIMP metallopeptidase inhibitor 3

DNA, protein:hypermethylation, decreased expression:promoter, placenta

NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288

endometrial adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiopoietin 1

protein:increased expression:endometrium epithelium

NCBI chr13:8,068,920...8,312,090
Ensembl chr13:8,048,205...8,311,618

G

angiopoietin 2

protein:increased expression:endometrium epithelium

NCBI chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701

G

AT-rich interaction domain 1A

treatment

human cell in mouse model

NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102

G

axin 2

NCBI chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530

G

Bet1 golgi vesicular membrane trafficking protein like

disease_progression

NCBI chr18:25,358,517...25,361,944
Ensembl chr18:25,360,636...25,361,299

G

CD55 molecule

NCBI chr 7:6,361,037...6,396,063
Ensembl chr 7:6,360,964...6,386,226

G

estrogen receptor binding site associated antigen 9

protein:increased expression:endometrium

NCBI chr13:10,081,700...10,099,737
Ensembl chr13:10,081,695...10,099,501

G

forkhead box O3

severity

associated with Obesity;protein:decreased expression:endometrium (human)

NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198

G

glutathione peroxidase 3

mRNA:decreased expression:endometrium (rat)

NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010

G

interferon regulatory factor 1

DNA:deletions (rat)

NCBI chr11:20,773,801...20,781,106
Ensembl chr11:20,760,120...20,781,608

G

Jun proto-oncogene, AP-1 transcription factor subunit

no_association

protein, mRNA::endometrial epithelium and stroma:no correlation between expression and type of tissue or cancer stage or grade

NCBI chr 5:50,966,698...50,968,939

G

KRAS proto-oncogene, GTPase

DNA:point mutation:CDS:p.G12D, p.G12S, p.Q61H (rat)

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

mitogen-activated protein kinase 1

treatment

protein:decreased phosphorylation:endometrium (human)
human tumor in a mouse model

PMID:14760076 PMID:23402905

RGD:13703125 RGD:13703137

NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998

G

mitogen-activated protein kinase 3

treatment

human tumor in a mouse model
protein:decreased phosphorylation:endometrium (human)

PMID:14760076 PMID:23402905

RGD:13703125 RGD:13703137

NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425

G

programmed cell death 10

disease_progression

protein:increased expression:endometrium (human)

NCBI chr34:32,512,109...32,553,524
Ensembl chr34:32,512,112...32,553,445

G

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970

G

phosphatase and tensin homolog

ameliorates

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

prostaglandin E synthase

protein:increased expression:endometrium

NCBI chr 9:54,071,472...54,082,232
Ensembl chr 9:54,071,472...54,082,232

G

ribonucleotide reductase regulatory subunit M2

DNA:amplification (rat)

NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939

G

transforming growth factor beta receptor 3

mRNA:decreased expression:endometrium

NCBI chr 6:57,025,096...57,220,240
Ensembl chr 6:57,025,112...57,217,121

G

tumor protein p53

disease_progression

DNA:missense mutations
protein:increased expression:endometrium

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

tumor susceptibility 101

mRNA:alternative forms

NCBI chr21:40,910,870...40,952,922
Ensembl chr21:40,910,874...40,952,808

endometrial cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenoceptor beta 3

susceptibility

associated with Obesity;DNA:polymorphism: :p.W64R (human)

NCBI chr16:27,445,601...27,446,796
Ensembl chr16:27,445,601...27,447,521

G

alpha fetoprotein

severity

protein:increased expression:serum

NCBI chr13:62,182,876...62,203,414
Ensembl chr13:62,053,814...62,294,709

G

AKT serine/threonine kinase 2

severity

DNA:snp:intron:c.287+993G>A (rs892119) (human)

NCBI chr 1:113,359,038...113,407,119
Ensembl chr 1:113,359,575...113,407,131

G

APC regulator of WNT signaling pathway

treatment
severity

human cells in a mouse model
protein:increased expression:endometrium (human)
DNA:mutations, haplotype:cds:multiple (human)
with Pten knockout

PMID:15951972 PMID:22907428 PMID:23288720 PMID:29876005

RGD:13524585 RGD:13524624 RGD:13673916 RGD:13673917

NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993

G

apurinic/apyrimidinic endodeoxyribonuclease 1

DNA:nonsense mutation, missense mutations: :p.W188X, p.P112L, p.R237C (human)

NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422

G

androgen receptor

NCBI chr24:34,713,390...34,731,461
NCBI chr X:51,969,785...52,167,450
Ensembl chr X:51,969,785...52,151,912

G

AT-rich interaction domain 1A

onset

protein:decreased expression:endometrium (human)

NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102

G

ATM serine/threonine kinase

susceptibility

NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

BCL2 associated agonist of cell death

disease progression

protein:altered expression:endometrium (human)

NCBI chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405

G

BAG cochaperone 1

protein:increased expression:endometrium

NCBI chr11:50,348,833...50,363,532
Ensembl chr11:50,350,999...50,363,581

G

BCL2 like 1

protein:increased expression:endometrium

NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355

G

BRCA2 DNA repair associated

DNA:deletion, frameshift mutation

NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815

G

bone marrow stromal cell antigen 2

treatment

protein:increased expression:endometrium:

PMID:22729361 PMID:26498112

RGD:14398492 RGD:14398498

NCBI chr20:45,383,757...45,387,420
Ensembl chr20:45,383,915...45,387,178

G

CD59 molecule

protein:increased expression:endometrium

NCBI chr18:33,977,433...33,999,145
Ensembl chr18:33,977,480...33,998,329

G

CD9 molecule

NCBI chr27:38,742,539...38,754,984
Ensembl chr27:38,742,963...38,774,576

G

cell division cycle 25B

NCBI chr24:17,552,206...17,561,791
Ensembl chr24:17,553,316...17,561,759

G

cell division cycle 25C

DNA:mutation (human)

NCBI chr11:25,904,152...25,940,754
Ensembl chr11:25,904,144...25,935,744

G

cadherin 1

NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878

G

cyclin dependent kinase inhibitor 2A

DNA:deletions:exon (rat)

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

cyclin dependent kinase inhibitor 2B

DNA:deletion (rat)

NCBI chr11:41,259,627...41,264,832

G

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427

G

catechol-O-methyltransferase

susceptibility
no_association

DNA:polymorphism: :p.V158M
DNA:hypermethylation:promoter

PMID:12810635 PMID:15285606 PMID:17442187

RGD:2289714 RGD:2289721 RGD:2289723

NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008

G

cytochrome P450 family 19 subfamily A member 1

DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.0004)

NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353

G

cytochrome P450 family 1 subfamily A member 1

DNA:SNP:CDS:rs4646903 T/T genotype, rs4646903-rs1048943 T-A haplotype, rs4646903 (TT) combined with SULT1A1 SNP rs9282861 (GA + AA) or rs4646903 (TT) combined with SULT1E1 SNP rs3736599 (GA+AA)

NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866

G

cytochrome P450 family 1 subfamily A member 2

DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.00000002)

NCBI chr30:37,818,400...37,824,192
Ensembl chr30:37,799,140...37,824,135

G

dihydrofolate reductase

ClinVar Annotator: match by term: MSH3-related condition

PMID:25741868 PMID:26467025 PMID:28492532 PMID:29641532 PMID:36652909

NCBI chr 3:26,521,214...26,556,065

G

EGF containing fibulin extracellular matrix protein 2

exacerbates
ameliorates

protein:decreased expression:endometrium (human)
human EFEMP2 knockdown cell line in a mouse model

NCBI chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107

G

epidermal growth factor

severity

DNA:snps:5'utr:multiple (human)

NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295

G

ERBB receptor feedback inhibitor 1

OMIM:608089

NCBI chr 5:61,621,964...61,636,152
Ensembl chr 5:61,622,550...61,636,148

G

fibroblast growth factor 1

disease_progression

mRNA:increased expression:myometrium

NCBI chr 2:37,467,431...37,554,770
Ensembl chr 2:37,470,985...37,554,619

G

fibroblast growth factor 2

disease_progression

mRNA, protein:increased expression:myometrium

NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151

G

growth hormone releasing hormone

mRNA:increased expression:tumor:expression in 17/22 specimens

PMID:10022420 PMID:15784701

RGD:2289974 RGD:2301423

NCBI chr24:25,893,224...25,902,095
Ensembl chr24:25,893,225...25,897,712

G

homeobox B13

NCBI chr 9:24,958,020...24,961,353
Ensembl chr 9:24,959,183...24,961,588

G

HtrA serine peptidase 2

protein:decreased expression:endometrium (human)

NCBI chr17:48,610,408...48,613,399
Ensembl chr17:48,610,408...48,613,399

G

interleukin 10

protein:increased expression:serum

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

Janus kinase 1

severity

DNA:frameshift mutations

NCBI chr 5:45,251,653...45,408,571
Ensembl chr 5:45,251,653...45,408,571

G

junction plakoglobin

protein:decreased expression:endometrium

NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071

G

sulfotransferase 1E1

DNA:SNP:haplotype:rs3736599 (GA+AA) combined with SULT1A1 SNP rs9282861 (GA + AA) or with CYP1A1 SNP rs4646903 (TT)

NCBI chr13:59,323,430...59,343,745

G

lymphotoxin alpha

susceptibility

DNA:polymorphism: :252A>G, 804C>A (human)

NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067

G

microcephalin 1

DNA:deletions:exons:multiple (human)

NCBI chr16:58,306,761...58,529,090
Ensembl chr16:58,295,280...58,529,433

G

microRNA mir-21

miRNA:increased expression:endometrium

NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624

G

mutL homolog 3

ClinVar Annotator: match by term: Endometrial cancer

PMID:12702580 PMID:28195393 PMID:28492532 PMID:31297992

NCBI chr 8:48,123,263...48,153,989
Ensembl chr 8:48,124,105...48,154,102

G

matrix metallopeptidase 7

disease_progression

protein:increased expression:endometrium

NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153

G

MRE11 homolog, double strand break repair nuclease

DNA:deletions:intron:IVS4_delT (human)

NCBI chr21:6,448,909...6,528,185
Ensembl chr21:6,449,822...6,527,119

G

mutS homolog 3

ClinVar Annotator: match by term: MSH3-related condition

PMID:2635641 PMID:8782829 PMID:11470537 PMID:20981092 PMID:21153778 More...

NCBI chr 3:26,335,788...26,520,633
Ensembl chr 3:26,336,403...26,518,521

G

mutS homolog 6

NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028

G

mutY DNA glycosylase

ClinVar Annotator: match by term: Endometrial cancer, somatic

PMID:11818965 PMID:12606733 PMID:12917422 PMID:15036665 PMID:15635083 More...

NCBI chr15:15,018,345...15,026,539
Ensembl chr15:14,906,543...15,026,539

G

notch receptor 1

mRNA:increased expression:endometrium

NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277

G

notch receptor 4

mRNA:decreased expression:endometrium

NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760

G

phosphoglucomutase 1

NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta

onset

mRNA:increased expression:endometrium (human)

NCBI chr23:34,832,661...34,955,410
Ensembl chr23:34,836,540...34,993,939

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

NCBI chr 5:62,884,596...62,936,882
Ensembl chr 5:62,909,009...62,935,971

G

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970

G

DNA polymerase epsilon, catalytic subunit

onset
disease_progression
ameliorates

DNA:polymorphisms:multiple (human)
protein:increased expression:endometrium (human)
DNA:missense mutations:CDS:p.P286R, p.V411L (human)
DNA:missense mutations:multiple (human)

PMID:25224212 PMID:29559562 PMID:29659608 PMID:31866764

RGD:151347644 RGD:151347645 RGD:151347650 RGD:151347857

NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917

G

phosphatase and tensin homolog

OMIM:608089

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

RAD21 cohesin complex component

onset

DNA:CNV: (human)

NCBI chr13:16,337,563...16,368,041
Ensembl chr13:16,338,972...16,368,035

G

ring finger protein 43

DNA:mutations:multiple: (human)

NCBI chr 9:32,996,668...33,061,781
Ensembl chr 9:32,997,937...33,060,313

G

RUNX family transcription factor 1

mRNA:decreased expression:endometrium

NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839

G

sex hormone binding globulin

DNA:polymorphism:exon:p.D327N (human)

NCBI chr 5:32,535,738...32,540,627
Ensembl chr 5:32,537,138...32,540,624

G

SMAD family member 2

protein:increased expression:endometrium

NCBI chr 7:43,696,883...43,778,063
Ensembl chr 7:43,700,445...43,769,983

G

SMAD family member 3

protein:increased expression:endometrium

NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337

G

SMAD family member 7

disease_progression

mRNA:increased expression:endometrium

NCBI chr 7:79,706,485...79,734,673
Ensembl chr 7:79,706,705...79,734,749

G

suppressor of cytokine signaling 2

DNA:hypermethylated

NCBI chr15:33,761,434...33,788,973
Ensembl chr15:33,785,545...33,877,869

G

sperm associated antigen 9

protein:increased expression:serum:

NCBI chr 9:26,820,381...26,966,315
Ensembl chr 9:26,820,002...26,966,300

G

serine/threonine kinase 11

OMIM:608089

NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118

G

sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1

NCBI chr 6:18,176,156...18,179,492
Ensembl chr 6:18,176,355...18,179,489

G

trefoil factor 1

mRNA, protein:increased expression:endometrium

NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665

G

TIMP metallopeptidase inhibitor 4

mRNA:decreased expression:endometrium

NCBI chr20:6,399,522...6,405,089
Ensembl chr20:6,399,522...6,405,089

G

TNF receptor superfamily member 1A

protein:increased expression:serum (human)

NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282

G

TNF receptor superfamily member 1B

protein:increased expression:serum (human)

NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191

G

tumor protein p53

OMIM:608089

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

WT1 transcription factor

disease_progression

NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000

endometrial carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 3

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 6:38,679,312...38,712,868
Ensembl chr 6:38,679,324...38,712,648

G

APC regulator of WNT signaling pathway

onset

DNA:hypermethylation:promoter: (human)
ClinVar Annotator: match by term: Endometrial carcinoma

PMID:19900189 PMID:25741868 PMID:28492532 PMID:32885271

NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993

G

apoptosis resistant E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:12702580 PMID:17656264 PMID:22290698 PMID:25741868 PMID:28492532

NCBI chr 8:47,798,946...47,819,364
Ensembl chr 8:47,801,895...47,819,318

G

AT-rich interaction domain 1A

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:133608 PMID:1300551 PMID:8845835 PMID:8968760 PMID:10425038 More...

NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

aurora kinase A

mRNA, protein:increased expression:endometrium

NCBI chr24:41,585,483...41,604,875
Ensembl chr24:41,585,518...41,604,791

G

aurora kinase B

disease_progression

mRNA, protein:increased expression:endometrium

NCBI chr 5:33,014,098...33,028,951
Ensembl chr 5:33,014,102...33,033,948

G

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:20077502 PMID:21344236 PMID:25330149 PMID:25741868 PMID:25980754 More...

NCBI chr37:21,946,770...22,024,672
Ensembl chr37:21,948,456...22,024,867

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

G

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:7545954 PMID:7581445 PMID:7837387 PMID:7894492 PMID:8531967 More...

NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:8075631 PMID:8524414 PMID:8673091 PMID:8673092 PMID:8758903 More...

NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815

G

BRICHOS domain containing 5

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 6:38,760,164...38,761,718
Ensembl chr 6:38,758,254...38,761,735

G

basigin

disease_progression

protein:increased expression:endometrium

NCBI chr20:57,942,703...57,951,089
Ensembl chr20:57,943,276...57,951,061

G

chromosome 5 C11orf65 homolog

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:12810666 PMID:19781682 PMID:21787400 PMID:23555315 PMID:25741868 More...

NCBI chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291

G

CASK interacting protein 1

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 6:38,776,710...38,788,253
Ensembl chr 6:38,776,710...38,786,727

G

cyclin B1

NCBI chr 2:54,256,957...54,264,749

G

CD82 molecule

disease_progression

NCBI chr18:44,658,414...44,707,897
Ensembl chr18:44,659,180...44,706,768

G

cadherin 1

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 More...

NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878

G

cadherin 13

disease_progression

DNA:hypomethylation

NCBI chr 5:68,491,156...69,586,119
Ensembl chr 5:68,492,022...69,489,255

G

checkpoint kinase 2

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:9536098 PMID:12533788 PMID:15087378 PMID:15095295 PMID:15492928 More...

NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624

G

dihydrofolate reductase

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:9536098 PMID:17576681 PMID:20154325 PMID:25741868 PMID:26467025 More...

NCBI chr 3:26,521,214...26,556,065

G

deoxyribonuclease 1 like 2

ClinVar Annotator: match by term: Endometrial carcinoma

G

E4F transcription factor 1

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 6:38,743,346...38,752,427
Ensembl chr 6:38,743,355...38,752,403

G

enoyl-CoA delta isomerase 1

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 6:38,729,729...38,738,357
Ensembl chr 6:38,730,219...38,738,219

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

endoplasmic reticulum aminopeptidase 1

disease_progression

NCBI chr 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634

G

fibroblast growth factor 7

mRNA:decreased expression:endometrium

NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:7719344 PMID:8651276 PMID:8696350 PMID:9002682 PMID:9462761 More...

NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

growth factor receptor bound protein 2

severity

Shc-Grb2 complex;protein:increased expression:serum (human)

NCBI chr 9:5,108,128...5,182,091
Ensembl chr 9:5,117,164...5,180,296

G

glycogen synthase kinase 3 beta

severity

protein:increased expression:endometrium (human)

NCBI chr33:23,458,369...23,659,878
Ensembl chr33:23,463,767...23,659,666

G

histone deacetylase 3

disease_progression

NCBI chr 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682

G

HRas proto-oncogene, GTPase

disease_progression

protein:increased expression:endometrial stroma, cytoplasm (human)
DNA:snps:cds: (human)

PMID:8960147 PMID:9641239

RGD:13441555 RGD:13781876

NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717

G

Jun proto-oncogene, AP-1 transcription factor subunit

disease_progression

protein:increased expression:tumor:positive correlation between expression and tumor grade (P=0.027)

NCBI chr 5:50,966,698...50,968,939

G

KiSS-1 metastasis suppressor

disease_progression

mRNA:decreased expression:endometrium

NCBI chr38:768,333...774,328
Ensembl chr38:768,585...773,382

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:6320174 PMID:11745231 PMID:12460918 PMID:15696205 PMID:16051643 More...

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

small nucleolar RNA SNORD60

ClinVar Annotator: match by term: Endometrial carcinoma

G

mitogen-activated protein kinase 1

severity

protein:increased phosphorylation:endometrium (human)
protein:increased expression:endometrium (human)

PMID:22459351 PMID:29081408

RGD:13441552 RGD:13702082

NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998

G

mitogen-activated protein kinase 3

severity

protein:increased phosphorylation:endometrium (human)
protein:increased expression:endometrium (human)

PMID:22459351 PMID:29081408

RGD:13441552 RGD:13702082

NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425

G

microRNA mir-152

DNA:hypermethylation

NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225

G

mutL homolog 1

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:1756143 PMID:7728749 PMID:8566964 PMID:8571956 PMID:8574961 More...

NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116

G

mutL homolog 3

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:12702580 PMID:17656264 PMID:22290698 PMID:25741868 PMID:28492532 More...

NCBI chr 8:48,123,263...48,153,989
Ensembl chr 8:48,124,105...48,154,102

G

MTOR associated protein, LST8 homolog

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 6:38,759,713...38,765,556
Ensembl chr 6:38,762,103...38,765,488

G

matrix metallopeptidase 8

NCBI chr 5:29,036,381...29,047,180
Ensembl chr 5:29,035,820...29,046,808

G

matrix metallopeptidase 9

disease_progression

protein:increased expression:endometrium

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

mutS homolog 2

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:1586275 PMID:7585065 PMID:8640829 PMID:9222765 PMID:9536098 More...

NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210

G

mutS homolog 3

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:2635641 PMID:8782829 PMID:9536098 PMID:16199547 PMID:17576681 More...

NCBI chr 3:26,335,788...26,520,633
Ensembl chr 3:26,336,403...26,518,521

G

mutS homolog 6

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:183784 PMID:183865 PMID:216699 PMID:503524 PMID:580154 More...

NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028

G

mutY DNA glycosylase

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:11818965 PMID:12606733 PMID:16140997 PMID:16338133 PMID:16492921 More...

NCBI chr15:15,018,345...15,026,539
Ensembl chr15:14,906,543...15,026,539

G

nuclear receptor coactivator 1

mRNA:increased expression:endometrium

NCBI chr17:18,880,676...19,124,300
Ensembl chr17:18,880,383...19,122,258

G

nuclear receptor corepressor 2

mRNA:increased expression:endometrium

NCBI chr26:5,352,670...5,493,741
Ensembl chr26:5,331,459...5,493,830

G

nitric oxide synthase 3

disease_progression

protein:increased expression:endometrium

NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:17200668 PMID:20091115 PMID:21285249 PMID:21365267 PMID:22241545 More...

NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745

G

phosphoglycolate phosphatase

ClinVar Annotator: match by term: Endometrial carcinoma

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910

G

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503

G

PMS1 homolog 2, mismatch repair system component

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:7628019 PMID:7704024 PMID:8072530 PMID:8993976 PMID:9683794 More...

NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940

G

DNA polymerase delta 1, catalytic subunit

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:12376507 PMID:17145065 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:25741868 PMID:26467025 PMID:27217144 PMID:28492532

NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917

G

protein kinase C alpha

NCBI chr 9:13,638,106...13,879,571
Ensembl chr 9:13,644,010...13,967,630

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:1945792 PMID:7728760 PMID:8980400 PMID:9259288 PMID:9326929 More...

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

prostaglandin-endoperoxide synthase 1

disease_progression

NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819

G

protein tyrosine kinase 2

severity

protein:increased expression:endometrium

NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294

G

RAB26, member RAS oncogene family

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 6:38,806,750...38,812,541
Ensembl chr 6:38,807,487...38,812,379

G

RAD51 paralog C

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:20400964 PMID:21990120 PMID:24800917 PMID:25741868 PMID:26681312 More...

NCBI chr 9:33,289,675...33,347,411
Ensembl chr 9:33,289,742...33,326,405

G

Ras association domain family member 1

DNA, protein:hypermethylation, decreased expression:promoter,

NCBI chr20:39,014,639...39,023,393
Ensembl chr20:39,014,666...39,022,585

G

RNA binding protein with serine rich domain 1

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 6:38,719,713...38,729,437
Ensembl chr 6:38,719,792...38,728,773

G

RUNX family transcription factor 3

DNA:promoter:hypermethylated

G

stratifin

NCBI chr 2:73,268,289...73,269,663
Ensembl chr 2:73,268,791...73,269,537

G

SMAD family member 4

severity

DNA:substitutions:promoter
mRNA:decreased expression:endometrium

PMID:10331746 PMID:15385128

RGD:2299966 RGD:2300009

NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405

G

secreted protein acidic and cysteine rich

DNA, mRNA, protein:hypermethylation, altered expression

NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118

G

transforming acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 3:62,368,641...62,380,898
Ensembl chr 3:62,368,642...62,381,024

G

trefoil factor 1

disease_progression

protein:increased expression:endometrium

NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665

G

TIMP metallopeptidase inhibitor 1

disease_progression

protein:increased expression:endometrium

NCBI chr X:41,201,623...41,205,314
Ensembl chr X:41,201,638...41,205,310

G

TIMP metallopeptidase inhibitor 2

disease_progression

mRNA:decreased expression:endometrium

NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989

G

TIMP metallopeptidase inhibitor 4

disease_progression

protein:increased expression:endometrium

NCBI chr20:6,399,522...6,405,089
Ensembl chr20:6,399,522...6,405,089

G

tumor protein p53

severity

protein:increased expression:epithelial cell, endometrium
ClinVar Annotator: match by term: Endometrial carcinoma

PMID:18431720 PMID:25741868 PMID:28492532

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

TNF receptor associated factor 7

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 6:38,788,451...38,805,666
Ensembl chr 6:38,788,454...38,962,167

G

TSC complex subunit 2

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960

G

Wnt family member 2

mRNA:decreased expression:endometrium

NCBI chr14:56,123,735...56,172,113
Ensembl chr14:56,129,248...56,172,069

G

Wnt family member 4

mRNA:decreased expression:tumor:vs normal endometrium

NCBI chr 2:77,112,045...77,129,702
Ensembl chr 2:77,101,300...77,127,111

G

Wnt family member 5A

mRNA:decreased expression:tumor:vs normal endometrium

NCBI chr20:34,756,430...34,790,937
Ensembl chr20:34,769,930...34,786,673

endometrial serous adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Endometrial serous adenocarcinoma

NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

BRCA2 DNA repair associated

susceptibility

DNA:deletion: :6174delT

NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815

endometrial stromal sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene, receptor tyrosine kinase

protein:increased expression:tumor:increased in 6/8 (75%) of tumors

NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029

Endometrioid Carcinomas

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation

PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More...

NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193

G

APC regulator of WNT signaling pathway

mRNA, protein:decreased expression:endometrium (human)

NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993

G

amphiregulin

mRNA, protein:increased expression:endometrium

NCBI chr13:62,925,761...62,936,753
Ensembl chr13:62,926,301...62,936,738

G

ATPase copper transporting beta

disease_progression

protein:increased expression:endometrium

NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266

G

baculoviral IAP repeat containing 5

protein:increased expression:endometrium

NCBI chr 9:2,930,308...2,959,307

G

bone morphogenetic protein 4

NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557

G

carbonic anhydrase 9

protein:altered localization:membrane, endometrium

NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267

G

cyclin E1

protein:increased expression:endometrium

NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649

G

cadherin 1

protein:decreased expression:endometrium

NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878

G

cyclin dependent kinase 2

severity

NCBI chr10:300,863...306,546
Ensembl chr10:300,903...305,438

G

cyclin dependent kinase inhibitor 1B

NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906

G

checkpoint kinase 2

susceptibility

NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624

G

catenin beta 1

DNA:mutations

NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927

G

death domain associated protein

protein:increased expression:ovary:

NCBI chr12:2,755,960...2,760,687
Ensembl chr12:2,755,960...2,761,340

G

DNA methyltransferase 1

mRNA,protein:increased expression:uterus:

NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029

G

DNA methyltransferase 3 beta

mRNA,protein:increased expression:uterus:

NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation

NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

enolase 2

NCBI chr27:38,120,404...38,128,543
Ensembl chr27:38,119,413...38,129,182

G

erb-b2 receptor tyrosine kinase 2

NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294

G

erb-b2 receptor tyrosine kinase 3

NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264

G

erb-b2 receptor tyrosine kinase 4

NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426

G

estrogen receptor 1

severity

protein:increased phosphorylation

NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation

PMID:7719344 PMID:8651276 PMID:9002682 PMID:9462761 PMID:9719378 More...

NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621

G

insulin like growth factor binding protein 3

disease_progression

NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392

G

inhibin subunit alpha

protein:decreased expression:tumor:significantly higher in normal compared to malignant tissue

NCBI chr37:26,080,465...26,083,570
Ensembl chr37:26,080,510...26,083,391

G

inhibin subunit beta A

protein:decreased expression:endometrium

NCBI chr18:8,272,978...8,288,432
Ensembl chr18:8,272,872...8,283,794

G

kinase insert domain receptor

severity

protein:increased expression, increased phosphorylation:tumor:pKDR expression associated with poor overall survival (P=0.009)

NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042

G

KRAS proto-oncogene, GTPase

associated with Ovarian Neoplasms

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

leucyl and cystinyl aminopeptidase

associated with Endometrial Neoplasms

NCBI chr 3:12,668,994...12,766,712
Ensembl chr 3:12,681,577...12,767,183

G

mesothelin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:39,827,985...39,834,945

G

mitogen-activated protein kinase 1

treatment

NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998

G

mitogen-activated protein kinase 3

treatment

NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425

G

NK2 homeobox 1

DNA:hypermethylation

G

platelet derived growth factor receptor alpha

protein:decreased expression:ovary

NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278

G

platelet derived growth factor receptor beta

protein:increased expression:ovary

NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283

G

phosphoinositide-3-kinase regulatory subunit 2

ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation

PMID:21984976 PMID:25741868

NCBI chr20:44,826,037...44,838,449
Ensembl chr20:44,826,339...44,836,558

G

DNA polymerase epsilon, catalytic subunit

ameliorates

DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Endometrioid adenocarcinoma

PMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 More...

NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917

G

phosphatase and tensin homolog

DNA:loss of heterozygosity, mutations:multiple (human)
DNA:mutations: :multiple

PMID:11156411 PMID:17418409

RGD:12802357 RGD:2289817

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

secreted phosphoprotein 1

NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069

G

ST14 transmembrane serine protease matriptase

associated with Ovarian Neoplasms;protein:increased expression:ovary

NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069

G

WNT inhibitory factor 1

mRNA:increased expression:ovary

NCBI chr10:7,659,277...7,726,175
Ensembl chr10:7,659,491...7,726,859

gestational trophoblastic neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Gestational trophoblastic neoplasia

PMID:21948117 PMID:25741868

NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620

G

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

Hydatidiform Mole

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein hormones, alpha polypeptide

protein:increased expression:serum

NCBI chr12:46,610,801...46,629,322
Ensembl chr12:46,610,973...46,636,640

G

elongation factor Tu GTP binding domain containing 2

protein:increased expression:trophoblast, decidua:

NCBI chr 9:18,585,918...18,631,743
Ensembl chr 9:18,585,971...18,635,570

G

KH domain containing 3 like, subcortical maternal complex member

ClinVar Annotator: match by term: Hydatidiform mole

NCBI chr12:35,434,123...35,435,679
Ensembl chr12:35,434,123...35,468,943

G

mutL homolog 1

DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell

NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116

G

matrix metallopeptidase 2

protein:increased expression:syncytiotrophoblast cell

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

mutS homolog 2

DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell

NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Hydatidiform mole

PMID:24033266 PMID:25741868

NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283

Hydatidiform Mole, Invasive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutS homolog 2

protein:decreased expression:mononuclear cytotrophoblast cell

NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210

Hydatidiform Mole, Recurrent, 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1

PMID:11598368 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 More...

NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620

Hydatidiform Mole, Recurrent, 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KH domain containing 3 like, subcortical maternal complex member

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2

PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 More...

NCBI chr12:35,434,123...35,435,679
Ensembl chr12:35,434,123...35,468,943

Hydatidiform Mole, Recurrent, 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

meiotic double-stranded break formation protein 1

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3

PMID:25741868 PMID:30388401

NCBI chr10:23,533,749...23,606,875
Ensembl chr10:23,518,214...23,606,816

Hydatidiform Mole, Recurrent, 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TOP6B like initiator of meiotic double strand breaks

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4

PMID:25741868 PMID:30388401

NCBI chr18:50,512,681...50,617,666
Ensembl chr18:50,549,497...50,560,943

placental site trophoblastic tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glypican 3

protein:increased expression:placenta, trophoblast cells (human)

NCBI chr X:104,313,426...104,751,215
Ensembl chr X:104,313,591...104,751,756

uterine carcinosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 2A

disease_progression

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

erb-b2 receptor tyrosine kinase 2

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:16397024 PMID:23220880 PMID:26619011 PMID:28492532

NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294

G

erb-b2 receptor tyrosine kinase 3

ClinVar Annotator: match by term: Uterine carcinosarcoma

NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:25741868 PMID:26619011

NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:7719344 PMID:8651276 PMID:9002682 PMID:9462761 PMID:9719378 More...

NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717

G

KIT proto-oncogene, receptor tyrosine kinase

Uterine Carcinosarcomas; protein:increased expression:tumor:10/12 tumors (83%)

NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More...

NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:19962457 PMID:25157968 PMID:26619011

NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 More...

NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917

G

protein phosphatase 2 scaffold subunit Aalpha

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:25533962 PMID:25741868 PMID:26168268 PMID:26619011 PMID:28492532 More...

NCBI chr 1:104,974,059...105,013,745
Ensembl chr 1:104,974,072...105,013,663

G

prominin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:64,229,487...64,362,346
Ensembl chr 3:64,260,685...64,382,009

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More...

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

tumor protein p53

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1591732 More...

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

U2 small nuclear RNA auxiliary factor 1

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011

NCBI chr31:37,263,265...37,276,710

uterine corpus cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:2557216 PMID:11805335 PMID:15279808 PMID:16864838 PMID:19535770 More...

NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:7894493 PMID:8807330 PMID:9667259 PMID:10811118 PMID:11157798 More...

NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:8524414 PMID:8665505 PMID:9585613 PMID:9667259 PMID:11030418 More...

NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815

G

BRCA1 interacting helicase 1

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:16116423 PMID:17033622 PMID:21964575 PMID:24728327 PMID:25452441 More...

NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788

G

chromosome 5 C11orf65 homolog

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:2557216 PMID:11805335 PMID:15279808 PMID:16864838 PMID:19535770 More...

NCBI chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291

G

checkpoint kinase 2

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:21876083 PMID:24713400 PMID:28492532

NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624

G

mutS homolog 2

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:9634524 PMID:11859205 PMID:21642682 PMID:36988593

NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210

G

mutS homolog 6

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:18269114 PMID:24362816 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 More...

NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:9256433 PMID:29706350

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

RAD51 paralog C

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:9536098 PMID:12966089 PMID:17576681 PMID:22538716 PMID:24139550 More...

NCBI chr 9:33,289,675...33,347,411
Ensembl chr 9:33,289,742...33,326,405

Term paths to the root

Path 1
Term	Annotations
disease	17773
disease of anatomical entity	15145
reproductive system disease	2897
reproductive organ cancer	1234
female reproductive organ cancer	617
uterine cancer	306
cervical cancer +	92
endometrial cancer +	193
placenta cancer +	7
uterine adnexa cancer +	0
uterine carcinoma +	49
uterine corpus cancer +	26
uterine ligament cancer +	0
Path 2
Term	Annotations
disease	17773
disease of anatomical entity	15145
Urogenital Diseases	4734
Female Urogenital Diseases and Pregnancy Complications	2355
Female Urogenital Diseases	1915
female reproductive system disease	1912
Female Genital Neoplasms	821
female reproductive organ cancer	617
uterine cancer	306
cervical cancer +	92
endometrial cancer +	193
placenta cancer +	7
uterine adnexa cancer +	0
uterine carcinoma +	49
uterine corpus cancer +	26
uterine ligament cancer +	0

paths to the root